Submissions for variant NM_000478.6(ALPL):c.863-12C>G

gnomAD frequency: 0.18464  dbSNP: rs75829132

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246935	SCV000304441	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318779	SCV000354304	benign	Hypophosphatasia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga)	RCV000246935	SCV000702080	benign	not specified	2016-10-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001523593	SCV001733322	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533613	SCV001750332	benign	Infantile hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533614	SCV001750333	benign	Childhood hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533615	SCV001750334	benign	Adult hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001523593	SCV001856743	benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001523593	SCV005286165	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000246935	SCV001807337	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000246935	SCV001975585	benign	not specified		no assertion criteria provided	clinical testing